Q1a.

What are the essential parts of a chromosome?

1.   Chromatids, Chromonema and Chromomeres 

2. Pellicle and Matrix 

3. Telomere.

4. Secondary Constriction

5. Satellite

6. Centromeres

1B answer

The region on the chromosome where the spindle fibers bind during the process of cell cycle is
called a centromere. Depending on the position of centromere, chromosomes can be classified
into four types:

Metacentric chromosome: The centromere is present at the centre and thus divides the
chromosome into two equal arms.

Sub-metacentric chromosome: The centromere is present slightly away from the centre of a
chromosome or nearer to one end of the chromosome. As a result, chromosome is divided into
one shorter and one longer arm.

Acrocentric chromosome: The centromere is present very cose to one end of the chromosome.
Thus, it forms one extremely short and one very long arm.

Telocentric Chromosome: or terminal chromosome: The centromere is present at the terminal

end of the chromosome and thus, chromosome appears to have a single arm.

1c. An amniocentesis is a prenatal test that can diagnose genetic disorders (such as Down
syndrome and spina bifida) and other health issues during pregnancy. A provider uses a needle to
remove a small amount of amniotic fluid from inside the uterus, and then a lab tests the sample

WHILE
Chorionic villus sampling (CVS), or chorionic villus biopsy, is a prenatal test that involves
taking a sample of tissue from the placenta to test for chromosomal abnormalities and certain
other genetic problems.

DIFFERENCE AMNIOCENTESIS CVS

Procedure Amniotic fluid is removed CVS is removed by catheter
using a needle (TC) or needle (TA)
Timing 16-20th week 10-20th week
Fetal Malform risk Non 1:3000 vascular limb
malformation
Pregnancy Loss 0.5-1% 2-3%
Time Required For 2-3 weeks 1 WEEK
Cytogenesis Diagnosis
Risk Less than 1% tendency to Risk of placenta mosaicism
have a miscarriage
.

Q2a. Karyotype is a test to identify and evaluate the size, shape, and number of chromosomes in
a sample of body cells.

USES OF KARYOTYPE

Karyotyping can be used to detect a variety of genetic disorders. For example, a woman who has
premature ovarian failure may have a chromosomal defect that karyotyping candetect.

The test is also useful for identifying the Philadelphia chromosome. Having this chromosome
can signal chronic myelogenous leukemia (CML) A slowly progressing and uncommon type of
blood-cell cancer that begins in the bone marrow .

Q2b.

SYMMETRIC KARYOTYPE ASYMMETRIC KARYOTYPE

Covers small differences. Covers larger differences.

Metacentric chromosomes are

Acrocentric chromosomes are present.
present.

It is the same size. It differs in size.

It has the median centromere. The centromere positions are different.

Less scope of variation. They have more scope for variation.

2c.

Chromosomal mosaicism is defined as the presence of two or more chromosomally distinct cell
lines within an individual. At its core, chromosomal mosaicism is the failure of chromosomes to
properly segregate during mitosis, leading to the gain or loss of whole chromosomes, a
phenomenon known as aneuploidy.

3ai. Aneuploidy is a chromosomal mutation in which there is one or more extra chromosomes, or one or
more fewer chromosomes. In humans, the genetic disorders Down syndrome and Turner's syndrome
are examples of aneuploidy. Individuals with Down syndrome have three copies of chromosome 21, so
their genomes contain 47 chromosomes rather than the usual 46. Individuals with Turner syndrome
have only one sex chromosome, which is the X-chromosome, so their genomes contain 45
chromosomes.

ii. Polyploidy is a chromosomal mutation in which a cell has entire extra sets of chromosomes.
Instead of being diploid, in which the cell contains two sets of chromosomes, it may be triploid
(three sets of chromosomes), or tetraploid (four sets of chromosomes). Polyploidy is common in
plants, and plant growers may exploit this fact to produce plants with flowers having double
petals. Polyploidy is generally lethal in animals.

3B.

i. Autotetraploidy is an extremely rare chromosomal anomaly, polyploidy, when an affected

individual has four copies of each chromosome, instead of two, resulting in total of 92
chromosomes in each cell.

i.Allopolyploidy occurs when two closely related species mate and produce a hybrid containing
chromosome sets from both parent species. The resulting hybrid is usually sterile because the
chromosomes from each species cannot pair correctly during meiosis. The two different species
involved may also contribute different numbers of chromosomes which again prevents
chromosome pairing during meiosis, rendering the hybrid sterile.
iii. Parthenogenesis is a form of reproduction in which an egg can develop into an embryo
without being fertilized by a sperm

.3c. Mosaicism is when a person has 2 or more genetically different sets of cells in their body

Irregular chromosome copies change the genetic makeup of a baby,

ultimately affecting their mental and physical development.

People with Down syndrome typically have:

 slower speech

 lower IQ
 a flattened face
 small ears
 shorter height

 eyes that tend to slant up

 white spots on the iris of the eye

4A. An inversion is a chromosome rearrangement in which a segment of a chromosome is

reversed end to end. An inversion occurs when a single chromosome undergoes breakage and
rearrangement within itself.
Types Of Inversions
i. Paracentric: Paracentric inversions do not include the centromere and both breaks occur in
one arm of the chromosome.
ii. Pericentric: Inversions include the centromere and there is a break point in each arm.

Effects of Inversion: Inversions usually do not cause any abnormalities in carriers as long as the
rearrangement is balanced with no extra or missing DNA. However, in individuals which
are heterozygous for an inversion, there is an increased production of abnormal chromatids (this
occurs when crossing-over occurs within the span of the inversion). This leads to lowered
fertility due to production of unbalanced gametes. An inversion does not involve a loss of genetic
information, but simply rearranges the linear gene sequence.
4b. Deletion is a type of mutation involving the loss of genetic material. It can be small, involving
a single missing DNA base pair, or large, involving a piece of a chromosome. Deletion really
means that something is missing. And as a geneticist talking about deletion it means something
is missing of the genetic material. And it can be something small, just a base pair; it can be
something larger; it can be part of a gene; it can be even larger; it can be an entire gene; or yet
larger again, it can be part of the chromosome

Degree to Which Health Is Affected When It Occurs.

Different deletions can lead to different findings, and they can affect just behavior; they can
affect how a child, how a person looks; they can affect a very severe problem that the child may
die at birth; or they can affect something that just has to do with eye color, hair color, with weight
or height of the person.

When parts of chromosomes are missing, a number of syndromes can occur. These syndromes
are called chromosomal deletion syndromes. They tend to cause birth defects and limited
intellectual development  and physical development. In some cases, defects can be severe and
affected children die during infancy or childhood.

There are many chromosomal deletion syndromes, which include

 Cri-du-chat syndrome
 Prader-Willi syndrome
 Wolf-Hirschhorn syndrome

4c. Down syndrome is a genetic disorder caused when abnormal cell division results in
an extra full or partial copy of chromosome 21. This extra genetic material causes the
developmental changes and physical features of Down syndrome.

CAUSES OF DOWN SYNDROME

Human cells normally contain 23 pairs of chromosomes. One chromosome in each pair
comes from your father, the other from your mother.

Down syndrome results when abnormal cell division involving chromosome 21 occurs.
These cell division abnormalities result in an extra partial or full chromosome 21. This
extra genetic material is responsible for the characteristic features and developmental
problems of Down syndrome. Any one of three genetic variations can cause Down
syndrome:
  Trisomy 21. About 95 percent of the time, Down syndrome is caused by trisomy
21 — the person has three copies of chromosome 21, instead of the usual two
copies, in all cells. This is caused by abnormal cell division during the development
of the sperm cell or the egg cell.

 Mosaic Down syndrome. In this rare form of Down syndrome, a person has
only some cells with an extra copy of chromosome 21. This mosaic of normal and
abnormal cells is caused by abnormal cell division after fertilization.

 Translocation Down syndrome. Down syndrome can also occur when a portion

of chromosome 21 becomes attached (translocated) onto another chromosome,
before or at conception. These children have the usual two copies of chromosome
21, but they also have additional genetic material from chromosome 21 attached to
another chromosome.

Symptoms

Each person with Down syndrome is an individual — intellectual and developmental

problems may be mild, moderate or severe. Some people are healthy while others have
significant health problems such as serious heart defects.

Children and adults with Down syndrome have distinct facial features. Though not all
people with Down syndrome have the same features, some of the more common
features include:

 Flattened face

 Small head

 Short neck

 Protruding tongue

 Upward slanting eye lids (palpebral fissures)

 Unusually shaped or small ears

 Poor muscle tone

 Broad, short hands with a single crease in the palm

  Relatively short fingers and small hands and feet

 Excessive flexibility

 Tiny white spots on the colored part (iris) of the eye called Brushfield's spots

 Short height

Q6a.
An isochromosome is an unbalanced structural abnormality in which the arms of
the chromosome are mirror images of each other

WHILE

A ring chromosome is an aberrant chromosome whose ends have fused together to form a ring.

FORMATION OF RING CHROMOSOME

Ring chromosomes usually result from two terminal breaks in both chromosome arms, followed
by fusion of the broken ends each, or from the union of one broken chromosome end with the
opposite telomere region, leading to the loss of genetic material

FORMATION OF ISOCHROME

Isochromosome formation is a relatively frequent chromosomal

aberration, mainly in X chromosomes. Here the chromosomes
are not divided along their length (see the normal division of the
chromosomes figure) but transversely. The resulting
isochromosomes (karyogram) either have two short or two long
arms. Persons with this X chromosome anomaly have the same
phenotype as patients suffering from Turner's syndrome (45, X0).
This is explained by the fact that a X chromosome arm is
missing.

Fig. 13 - Normal division Fig. 14 - Isochromosome formation  Legend

          of the chromosome

Fig. 13
A chromosome has
divided in a correct
way along its length.
This results in two
identical daughter
chromosomes. This
process takes place
both in meiosis and
also in mitosis.

Animation (109 Kb)

Fig. 14
A chromosome has
divided transversely.
The result is two, non-
identical daughter
chromosomes (X
iso(Xp) and X iso(Xq)).

A Normal X chromosome A Normal X chromosome

B Identical daughter chromosomes B1 Isochromosome X iso(Xp)
B2 Isochromosome X iso(Xq)

6bi. 47, XXY:  People with 47, XXY have an extra chromosome. The X and Y

chromosomes are the sex chromosomes. Females usually have two X chromosomes (46, XX)
and males usually have one X and one Y chromosome (46, XY). People with 47, XXY have two
X chromosomes and one Y chromosome. Some people with 47, XXY may have no noticeable
signs or symptoms (features) or only mild features. Others may have more moderate to severe
features Common symptoms of 47, XXY include low testosterone, infertility, speech and
language problems, and learning difficulties. Although the majority of people with 47, XXY
identify as males (gender identity), some people with 47, XXY identify as female, intersex,
transgender, or prefer not to identify with a gender at all.

Chromosome 7p deletion (Del p)is a chromosome abnormality that occurs when there

is a missing copy of the genetic material located on the short arm (p) of chromosome
7. The severity of the condition and the signs and symptoms depend on the size
and location of the deletion and which genes are involved. Features that often occur
in people with chromosome 7p deletion include developmental delay, intellectual disability,
behavioral problems, and distinctive facial features. Most cases are not inherited, but
people can pass the deletion on to their children. Treatment is based on the signs
and symptoms present in each person.
 6bii. A 46, XY disorder of sex development (DSD) is a condition in which an
individual with one X chromosome and one Y chromosome in each cell, the pattern
normally found in males, have genitalia that is not clearly male or female.

6c

symptoms may include:[1][2][3]

 Small, firm testicles
 Delayed or incomplete puberty with lack of secondary sexual characteristics resulting in sparse
facial, body, or sexual hair a high-pitched voice and body fat distribution resulting in a rounder, lower
half of the body, with more fat deposited in the hips, buttocks and thigh instead of around the chest and
abdomen
 Breast growth (gynecomastia)
 Reduced facial and body hair
 Infertility
 Tall stature
 Abnormal body proportions (long legs, short trunk, shoulder equal to hip size)
 Learning disability
 Speech delay
 Crypthochirdism
 Opening (meatus) of the urethra (the tube that carries urine and sperm through the penis to the
outside) on the underside of the penis (hypospadias) instead of the tip of the head of the penis
 Social, psychologic and behavioral problems  
Whether or not a male with KS has visible symptoms depends on many factors, including how much
testosterone his body makes, if he is mosaic (with both XY and XXY cells), and his age when the
condition is diagnosed and treated.[1] Some people have a slightly increased risk of developing
breast cancer, a rare extragonadal germ cell tumor, lung disease, varicose veins and osteoporosis as well
as some autoimmune disorders such as systemic lupus erythematosus,
rheumatoid arthritis and Sjogren's syndrome.[2][4] 

Some people with features of Klinefelter syndrome have more than one extra X chromosome in each
cell (such as 48,XXXY or 49,XXXXY). In these cases, known as "variants of Klinefelter syndrome", the signs
and symptoms can be more severe and may include: [1][2][4]

 Intellectual disability
 Distinctive facial features
 Skeletal abnormalities
 Poor coordination
 Severe speech difficulties
 Behavioral problems
 Heart defects
 Teeth problems.

Last updated: 2/14/2018

Cause

Listen

Klinefelter syndrome usually occurs as a random event during the formation

of reproductive cells (eggs and sperm). An error in cell division
called nondisjunction results in a reproductive cell with an abnormal number
of chromosomes. For example, an egg or sperm cell may gain one or more extra
copies of the X chromosome as a result of nondisjunction. If one of these atypical
reproductive cells contributes to the genetic makeup of a child, the child will have
one or more extra X chromosomes in each of the body's cells. [2]

Most often, Klinefelter syndrome is caused by a single extra copy of the X

chromosome, resulting in a total of 47 chromosomes per cell. Males normally have
one X chromosome and one Y chromosome in each cell (46, XY), while females
have two X chromosomes (46, XX). People with Klinefelter syndrome usually have
two X chromosomes and one Y chromosome (47, XXY). Some people with
Klinefelter syndrome have the extra X chromosome in only some of their cells;
these people are said to have mosaic Klinefelter syndrome.[2]

It is estimated that about half of the time, the cell division error occurs during
development of the sperm, while the remainder are due to errors in egg
development. Women who have pregnancies after age 35 have a slightly increased
chance of having offspring with this syndrome.[5]

The features of Klinefelter syndrome are due to the extra copies of genes on the
extra X chromosome, which can alter male sexual development. [3]
 Some people with features of Klinefelter syndrome have conditions known as
"variants of Klinefelter syndrome" where there is more than one extra sex
chromosome in each cell (48,XXXY, 48,XXYY and 49,XXXXY).[5]

Klinefelter syndrome (KS) is a condition that occurs in males when they have an

extra X chromosome. Some males with KS have no obvious signs or symptoms while
others may have varying degrees of cognitive, social, behavioral, and learning
difficulties. Adults with Klinefelter syndrome may also have
primary hypogonadism (decreased testosterone production), small and/or
undescendent testes (cryptorchidism), enlarged breast tissue (gynecomastia), tall
stature, and/or inability to have biological children (infertility), as well as an
abnormal opening of the penis (hypospadias), and an small penis (micropenis). KS
is not inherited, but usually occurs as a random event during the formation
of reproductive cells (eggs and sperm) that results in the presence of one extra copy of
the X chromosome in each cell (47,XXY).  KS treatment is based on the signs and
symptoms present in each person.[1][2][3] Life expectancy is usually normal and many
people with KS have normal life. There is a very small risk of developing
breast cancer and other conditions such as a chronic inflammatory disease called
systemic lupus erythematosus.[3] 

8. Mosaicism is a condition in which cells within the same person have a different genetic
makeup. This condition can affect any type of cell, including: Blood cells. Egg and sperm cells.
Skin cells.

CAUSES

Mosaicism is caused by an error in cell division very early in the development of the unborn baby.
Examples of mosaicism include:

 Mosaic Down syndrome
 Mosaic Klinefelter syndrome
 Mosaic Turner syndrome

8B, Patau's syndrome is a serious rare genetic disorder caused by having an additional copy of
chromosome 13 in some or all of the body's cells. It's also called trisomy 13.
Each cell normally contains 23 pairs of chromosomes, which carry the genes you inherit from
your parents. 

But a baby with Patau's syndrome has 3 copies of chromosome 13, instead of 2.

9. Aneuploidy is a chromosomal mutation in which there is one or more extra chromosomes,

or one or more fewer chromosomes. In humans, the genetic disorders Down syndrome and
Turner's syndrome are examples of aneuploidy.

WHILE

Polyploidy is a chromosomal mutation in which a cell has entire extra sets of chromosomes.
Instead of being diploid, in which the cell contains two sets of chromosomes, it may be triploid
(three sets of chromosomes), or tetraploid (four sets of chromosomes). Polyploidy is common in
plants, and plant growers may exploit this fact to produce plants with flowers having double
petals. Polyploidy is generally lethal in animals.

9B. Nondisjunction is the failure of two chromosomes to separate during gamete formation,

resulting in gametes with either a missing chromosome (monosomy) or an extra one (trisomy).

9C. Turner syndrome is due to a chromosomal abnormality in which all or part of one of the X
chromosomes is missing or altered. While most people have 46 chromosomes, people with TS
usually have 45. The chromosomal abnormality may be present in just some cells in which case
it is known as TS with mosaicism.

Turner syndrome, a condition that affects only females, results when one of the X
chromosomes (sex chromosomes) is missing or partially missing. Turner syndrome can cause
a variety of medical and developmental problems, including short height, failure of the ovaries to
develop and heart defects.

Uniparental Disomy

A unique feature to imprinted conditions is the unusual situation in

which a child inherits both copies of a chromosome from one parent
and none from the other. This is known as uniparental disomy (UPD).
Possible results of a trisomic embryo
Uniparental disomy usually arises due to an error in meiosis. Two
chromosomes in either the egg or sperm cell fail to separate and both
get passed to the fetus. As a result, the fetus inherits three
chromosomes (trisomy) rather than two. In relatively rare situations,
one of the three chromosomes is lost (termed trisomy rescue), resulting in a 'normal' two-chromosome
state (disomic) after fertilization. One-third of the time, this loss will result in uniparental disomy.

For PWS and AS, if the child inherits both copies of chromosome 15 from his or her mother, then both
copies of the PWS region will be inactivated and the child will have PWS. If the child inherits both copies
of chromosome 15 from his or her father, then he or she will have AS.

Genetic imprinting also plays a part in other genetic disorders, such as Beckwith-Wiedemann syndrome
and Russell-Silver syndrome. Therefore, uniparental disomy can have a role in the expression of these
disorders as well.

Clinical Information on Diseases:

Beckwith-Wiedemann syndrome

Russell-Silver syndrome

XYY syndrome is a rare chromosomal disorder that affects males. It is caused by the presence
of an extra Y chromosome. Males normally have one X and one Y chromosome. However,
individuals with this syndrome have one X and two Y chromosomes. Affected individuals are
usually very tall.